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  3. EARS2
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Callosome

Gene: EARS2

Green List (high evidence)
EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Thinning of the corpus callosum is consistently present in affected individuals.
Created: 7 Mar 2022, 9:44 p.m. | Last Modified: 7 Mar 2022, 9:44 p.m.
Panel Version: 0.361

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Mar 2022, 9:44 p.m.
Last Modified: 7 Mar 2022, 9:44 p.m.
Panel version: 0.361

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome MONDO:0009723
  • Combined oxidative phosphorylation deficiency 12 MIM#614924
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
OMIM
612799
Clinvar variants
Variants in EARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ears2 has been classified as Green List (High Evidence).

7 Mar 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971

7 Mar 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EARS2 were set to

7 Mar 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EARS2 was added gene: EARS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EARS2 was set to Unknown